rs118203682

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	6.3	Tuberous Sclerosis Complex

Make rs118203682(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

9

Position

132902640

Gene

TSC1

is a	snp
is	mentioned by
dbSNP	rs118203682
dbSNP (classic)	rs118203682
ClinGen	rs118203682
ebi	rs118203682
HLI	rs118203682
Exac	rs118203682
Gnomad	rs118203682
Varsome	rs118203682
LitVar	rs118203682
Map	rs118203682
PheGenI	rs118203682
Biobank	rs118203682
1000 genomes	rs118203682
hgdp	rs118203682
ensembl	rs118203682
geneview	rs118203682
scholar	rs118203682
google	rs118203682
pharmgkb	rs118203682
gwascentral	rs118203682
openSNP	rs118203682
23andMe	rs118203682
SNPshot	rs118203682
SNPdbe	rs118203682
MSV3d	rs118203682
GWAS Ctlg	rs118203682

Max Magnitude

6.3

ClinVar
Risk	rs118203682(T;T)
Alt	rs118203682(T;T)
Reference	Rs118203682(C;C)
Significance	Pathogenic
Disease	Tuberous sclerosis syndrome Tuberous sclerosis 1 Cardiac rhabdomyoma Hamartoma Seizures Hereditary cancer-predisposing syndrome
Variation	info
Gene	TSC1
CLNDBN	Tuberous sclerosis syndrome Tuberous sclerosis 1 Cardiac rhabdomyoma Hamartoma Seizures Hereditary cancer-predisposing syndrome
Reversed	1
HGVS	NC_000009.11:g.135778027G>A
CLNSRC	Tuberous sclerosis database (TSC1)
CLNACC	RCV000042194.2, RCV000201048.1, RCV000415379.1, RCV000491852.1,